Is erythrokeratoderma one disorder? A clinical and ultrastructural study of two siblings

MacFarlane, Andrew; Chapman, Stephen J.; Verbov, Julian

doi:10.1111/j.1365-2133.1991.tb00632.x

Cited by 51 publications

(58 citation statements)

References 20 publications

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“…The type with migratory erythematous patches was called erythrokeratodermia variabilis (EKV), 11 and the other with stationary erythematous plaques was progressive symmetric erythrokeratodermia (PSEK) initially described by Darier. 12 Later, it was discovered that these two conditions were, in fact, different manifestations of a single inherited clinical entity, because both forms of erythrokeratodermia were observed within a single family, 13 and the same gene mutation was identified in patients with EKV 2 and others with PSEK. 6 Van Steensel et al proposed the designation EKVP to cover the diversity of clinical phenotypes.…”

Section: History Of Nomenclaturementioning

confidence: 99%

Erythrokeratodermia variabilis et progressiva

Ishida‐Yamamoto

2016

The Journal of Dermatology

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Erythrokeratodermia variabilis et progressiva (EKVP) is a rare inherited skin disease characterized by fixed hyperkeratotic plaques and transient erythematous patches. EKVP is most often transmitted in an autosomal dominant manner. Causal mutations were found in the GJB3, GJB4 and GJA1 genes encoding connexins 31, 30.3 and 43, respectively. Approximately 50% of affected individuals develop palmoplantar keratoderma. Connexins are components of gap junctions, which are intercellular channels that are found in almost all tissues including the skin. Treatment of EKVP usually involves use of topical keratolytics and emollients resulting in some improvement in hyperkeratosis. Low-dose systemic retinoid may be beneficial. Novel therapies targeting connexin hemichannels and gap junctions may become available in the future.

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Section: History Of Nomenclaturementioning

confidence: 99%

Erythrokeratodermia variabilis et progressiva

Ishida‐Yamamoto

2016

The Journal of Dermatology

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“…Die Erstbeschreibung der Erythrokeratodermia progressiva symmetrica (EKPS) erfolgte 1911 durch Darier und 1922 durch Gottron [6]. Klinisch bestehen scharf begrenzte hyperkeratotische Plaques auf dem Boden eines Erythems, das als rötlich-oranger Randsaum häufig noch erkennbar bleibt [6,11].…”

Section: Erythrokeratodermia Progressiva Symmetrica Darier-gottron MIunclassified

“…Klinisch bestehen scharf begrenzte hyperkeratotische Plaques auf dem Boden eines Erythems, das als rötlich-oranger Randsaum häufig noch erkennbar bleibt [6,11]. Typische Lokalisationen sind die Streckseiten der Extremitäten, das Gesicht sowie die Fuß-und Handrücken [6,11,16]. Ein Mitbefall der Hand-und Fußsohlen ist in 50% der Fälle beschrieben [7].…”

Section: Erythrokeratodermia Progressiva Symmetrica Darier-gottron MIunclassified

“…Die bei unseren Patienten gefundenen, weitgehend uncharakteristischen lichtmikroskopischen Befunde decken sich nahezu vollständig mit den Beschreibungen der Literatur [6,7,9].…”

Section: Introductionunclassified

“…Die ultrastrukturellen Befunde bei Mutter und Sohn waren gleichartig und zeigen ähnliche Veränderungen wie die wenigen elektronenmikroskopischen Untersuchungen zur EKPS in der Literatur [4,6,7,9]. Nazzaro et al [7] beschreiben ebenfalls Lipidvakuolen im Stratum corneum.…”

Section: Introductionunclassified

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Erythrokeratodermia progressiva symmetrica Darier-Gottron mit generalisierter Ausprägung

Emmert

Küster²,

Schauder

et al. 1998

Der Hautarzt

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A mother and her son presented with erythrokeratodermia progressiva symmetrica Darier-Gottron. Both patients developed symmetrical erythematous and hyperkeratotic plaques on the extremities and face at the age of 6 months. At the age of 2 1/2 years the son suffered from rapid progression of the disease to involve the entire skin. The disease of his mother had shown a similar course, however, with spontaneous regression at the age of 10 years. The clinical features of this generalized condition were identical to congenital lamellar ichthyosis. Light microscopy was non-specific with orthohyperkeratosis, focal parakeratosis and acanthosis. Electron microscopy revealed numerous keratinosomes in the stratum granulosum, keratinosome-derived lamellae in the intercellular space and partly augmented keratohyalin with clumping. In the stratum spinosum short tonofilament bundles with clumping were remarkable. The child experienced a significant and persistent improvement with systemic retinoids. His mother's disease was successfully controlled with intermittent retinoid therapy. With the clinical and ultrastructural criteria presently available, an unambiguous differentiation between erythrokeratodermia progressiva symmetrica, usually a localized disorder of keratinization, however with intermittent generalization, and other disorders of keratinization seems difficult.

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Linkage of an American Pedigree With Palmoplantar Keratoderma and Malignancy (Palmoplantar Ectodermal Dysplasia Type III) to 17q24

Stevens¹

1996

Arch Dermatol

129

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Is erythrokeratoderma one disorder? A clinical and ultrastructural study of two siblings

Cited by 51 publications

References 20 publications

Erythrokeratodermia variabilis et progressiva

Erythrokeratodermia variabilis et progressiva

Erythrokeratodermia progressiva symmetrica Darier-Gottron mit generalisierter Ausprägung

Linkage of an American Pedigree With Palmoplantar Keratoderma and Malignancy (Palmoplantar Ectodermal Dysplasia Type III) to 17q24

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